Anemia, Hypochromic Microcytic, With Iron Overload 2; Ahmio2

Description

STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.

Clinical Features

Top most frequent phenotypes and symptoms related to Anemia, Hypochromic Microcytic, With Iron Overload 2; Ahmio2

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Fatigue
  • Hypogonadism
  • Elevated hepatic transaminase
  • Hypothyroidism
  • Hepatosplenomegaly
  • Pallor
And another 17 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Anemia, Hypochromic Microcytic, With Iron Overload 2; Ahmio2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hyperferritinemia Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

HFE, ALAS2, SLC25A38, CDAN1, SEC23B, FTL, CP, SLC40A1, TFR2, HAMP, HJV, B2M, FTH1, STEAP3, TF
Specificity
7 %
Genes
50 %
Anemia, hypochromic microcytic, with iron overload 2 (sequence analysis of STEAP3 gene).

By CGC Genetics in Portugal.

STEAP3
Specificity
100 %
Genes
50 %
NGS Panel for Congenital and Acquired Sideroblastic Anemia.

By BLOODGENETICS BLOODGENETICS in Spain.

YARS2, ALAS2, PUS1, ABCB7, SLC25A38, GLRX5, MT-ATP6, SLC19A2, LARS2, SF3B1, TRNT1, STEAP3, NDUFB11, HSPA9
Specificity
8 %
Genes
50 %
NGS Panel for Iron related Anemias (including Aceruloplasminemia, Atransferrinemia, IRIDA, DMT1-deficiency =AHMIO1, Hypochromic microcytic anemia with iron overload 2=AHMIO2).

By BLOODGENETICS BLOODGENETICS in Spain.

ATP7B, ACVR1, CP, STEAP3, TF, TMPRSS6, SLC11A2, ATP4A
Specificity
13 %
Genes
50 %
STEAP3.

By Fulgent Genetics Fulgent Genetics in United States.

STEAP3
Specificity
100 %
Genes
50 %

Alternate names

Anemia, Hypochromic Microcytic, With Iron Overload 2; Ahmio2 Is also known as ;severe congenital hypochromic sideroblastic anemia.


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